Profiling endogenous, environmental, and infectious disease mutational signatures in blastic plasmacytoid dendritic cell neoplasms.

Background: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematopoietic disease derived from plasmacytoid dendritic lineage cells. The disease typically shows skin as well as frequent bone marrow and peripheral blood involvement. However, the pathogenesis of this disease is still not well understood.

Establishment of a whole slide imaging-based frozen section service at a cancer center.

Background: In recent years, there has been a surge of interest in clinical digital pathology (DP). Hardware and software platforms have matured and become more affordable, and advances in artificial intelligence promise to transform the practice of pathology. At our institution, we are launching a stepwise process of DP adoption which will eventually encompass our entire workflow.

A Study of Thyroid Fine Needle Aspiration of Follicular Adenoma in the "Atypia of Undetermined Significance" Bethesda Category Using Digital Image Analysis.

Background: Originally designed for computerized image analysis, ThinPrep is underutilized in that role outside gynecological cytology. It can be used to address the inter/intra-observer variability in the evaluation of thyroid fine needle aspiration (TFNA) biopsy and help pathologists to gain additional insight into thyroid cytomorphology.

Methods: We designed and validated a feature engineering and supervised machine learning-based digital image analysis method using ImageJ and Python scikit-learn .

Autopsy Techniques in Patients With History of Radiofrequency Ablation for Atrial Fibrillation.

Context.—: Esophageal fistula formation is one of the most feared complications of radiofrequency catheter ablation. This procedure and its many variations, such as the "maze," are becoming the mainstream treatment for atrial fibrillation owing to limitations of antiarrhythmic drugs.

Artificial Intelligence in Pathology: A Simple and Practical Guide.

Artificial intelligence (AI) is having an increasing impact on the field of pathology, as computation techniques allow computers to perform tasks previously performed by people. Here, we offer a simple and practical guide to AI methods used in pathology, such as digital image analysis, next-generation sequencing, and natural language processing. We not only provide a comprehensive review, but also discuss relevant history and future directions of AI in pathology.

Review of different platforms to perform rapid onsite evaluation via telecytology.

There is increased utilisation of cytopathology to provide a rapid onsite evaluation (ROSE) of fine needle aspiration and touch preparations of small biopsies. A well-executed ROSE procedure can significantly impact the diagnostic quality and appropriate specimen triage of procured biopsy materials. To accommodate the demand for ROSE, telecytology has been increasingly implemented to facilitate ROSE occurring remotely.

Comprehensive Study of Telecytology Using Robotic Digital Microscope and Single Z-Stack Digital Scan for Fine-Needle Aspiration-Rapid On-Site Evaluation.

Background: The current technology for remote assessment of fine-needle aspiration-rapid on-site evaluation (FNA-ROSE) is limited. Recent advances may provide solutions. This study compared the performance of VisionTek digital microscope (VDM) (Sakura, Japan) and Hamamatsu NanoZoomer C9600-12 single Z-stack digital scan (SZDS) to conventional light microscopy (CLM) for FNA-ROSE.

Malignant Melanoma Presenting as Thoracic Midline Malignancy: Clinicopathologic and Molecular Features.

Because of rarity, clinicopathologic and genomic profiles of noncutaneous malignant melanoma (MM) are not well characterized. In this study, we provide a detailed evaluation of 6 cases of MM presenting as thoracic midline malignancy. The tumors occurred in 6 white patients (5 males and 1 female; medium age, 71.

Visually Meaningful Histopathological Features for Automatic Grading of Prostate Cancer.

Histopathologic features, particularly Gleason grading system, have contributed significantly to the diagnosis, treatment, and prognosis of prostate cancer for decades. However, prostate cancer demonstrates enormous heterogeneity in biological behavior, thus establishing improved prognostic and predictive markers is particularly important to personalize therapy of men with clinically localized and newly diagnosed malignancy. Many automated grading systems have been developed for Gleason grading but acceptance in the medical community has been lacking due to poor interpretability.

An obesity paradox: an inverse correlation between body mass index and atherosclerosis of the aorta.

Background And Aims: Morbid obesity generally has been associated with higher morbidity and mortality for a variety of diseases. However, a number of exceptions to this have been reported and referred to as the "obesity paradox." The purpose of the present study was to obtain objective data on aortic atherosclerosis and its relationship to body mass index (BMI, kg/m), based on autopsy findings in a large cohort of overweight and obese decedents.

Morphometric data on severely and morbidly obese deceased, established on forensic and non-forensic autopsies.

With the widespread increase in the incidence of obesity, autopsies on severely and morbidly obese deceased have become common in the USA. Standard reference tables for organ weights provide little or no information on individuals with a body mass index greater than 35 kg/m(2). Although several recent reports have provided organ weights for small numbers of morbidly obese persons who died naturally from a variety of causes, these data may have been affected by comorbidities.

Profiling critical cancer gene mutations in clinical tumor samples.

Background: Detection of critical cancer gene mutations in clinical tumor specimens may predict patient outcomes and inform treatment options; however, high-throughput mutation profiling remains underdeveloped as a diagnostic approach. We report the implementation of a genotyping and validation algorithm that enables robust tumor mutation profiling in the clinical setting.

Methodology: We developed and implemented an optimized mutation profiling platform ("OncoMap") to interrogate approximately 400 mutations in 33 known oncogenes and tumor suppressors, many of which are known to predict response or resistance to targeted therapies.

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer.

An inherited variant on chromosome 8q24, rs6983267, is significantly associated with cancer pathogenesis. We present evidence that the region harboring this variant is a transcriptional enhancer, that the alleles of rs6983267 differentially bind transcription factor 7-like 2 (TCF7L2) and that the risk region physically interacts with the MYC proto-oncogene. These data provide strong support for a biological mechanism underlying this non-protein-coding risk variant.